Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.I545I

c.1635C>A

Surrounding Variants

1 paper

NM_023110.3

p.I545I

c.1635C>T

1 paper

NM_023110.3

p.I545M

c.1635C>G

1 paper

NM_023110.3

p.I545S

c.1634T>G

2 papers

NM_023110.3

p.I545T

c.1634T>C

1 paper

NM_023110.3

p.I545N

c.1634T>A

1 paper

NM_023110.3

p.N546Y

c.1636A>T

19 papers

NM_023110.3

p.N546D

c.1636A>G

4 papers

NM_023110.3

p.N546H

c.1636A>C

1 paper

NM_023110.3

p.N546I

c.1637A>T

1 paper

NM_023110.3

p.I545F

c.1633A>T

5 papers

NM_023110.3

p.N546S

c.1637A>G

1 paper

NM_023110.3

p.I545V

c.1633A>G